View source for Scaphocephaly

{{Short description|Skull malformation such that the head is long and narrow}}
{{Infobox medical condition (new)
| name          = Scaphocephaly
| image         = Scaphocephalic cranium.jpg
| caption       = Boy with Scaphocephaly
| pronounce     = skaf-o-SEF-aly
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| alt           = Boy with Scaphocephaly
}}

'''Scaphocephaly''' or '''sagittal craniosynostosis''' is a type of [[cephalic disorder]] which occurs when there is a premature [[Synostosis|fusion]] of the [[sagittal suture]]. Premature closure results in limited lateral expansion of the [[skull]], resulting in a characteristic long, narrow head.<ref>{{Citation |last1=Sandoval |first1=Jose I. |title=Scaphocephaly |date=2022 |url=http://www.ncbi.nlm.nih.gov/books/NBK567753/ |work=StatPearls |place=Treasure Island (FL) |publisher=StatPearls Publishing |pmid=33620830 |access-date=2023-01-11 |last2=De Jesus |first2=Orlando}}</ref> The [[skull base]] is typically spared.<ref>{{Cite journal |last1=Márquez |first1=Juan Camilo |last2=Herazo Bustos |first2=Cherina |last3=Wagner |first3=Matthias W. |date=2021-03-01 |title=Craniosynostosis: Understanding the Misshaped Head |url=https://pubs.rsna.org/doi/full/10.1148/rg.2021200127 |journal=RadioGraphics |volume=41 |issue=2 |pages=E45–E46 |doi=10.1148/rg.2021200127 |pmid=33646908 |s2cid=232090523 |issn=0271-5333}}</ref> The word comes {{ety|grc|''{{linktext|σκᾰ́φη}}'' (skáphē)|boat||''{{linktext|κεφαλή}}'' (kephalḗ)|head}}.

Scaphocephaly is the most common of the [[craniosynostosis]] conditions and accounts for approximately 50% of all craniosynostosis.<ref>{{Cite web |title=Pediatric Sagittal Synostosis {{!}} Doernbecher Children's Hospital {{!}} OHSU |url=https://www.ohsu.edu/doernbecher/pediatric-sagittal-synostosis |access-date=2023-01-11 |website=www.ohsu.edu}}</ref> It is most commonly [[Idiopathic disease|idiopathic]] (non-syndromic).

== Etiology ==
'''Non-syndromic'''

The underlying cause of the non-syndromic form is unknown. Over 100 mutations have been associated, including mutations in the [[Fibroblast growth factor receptor|FGFR]] genes.<ref>{{Cite journal |last1=Ye |first1=Xiaoqian |last2=Guilmatre |first2=Audrey |last3=Reva |first3=Boris |last4=Peter |first4=Inga |last5=Heuzé |first5=Yann |last6=Richtsmeier |first6=Joan T. |last7=Fox |first7=Deborah J. |last8=Goedken |first8=Rhinda J. |last9=Jabs |first9=Ethylin Wang |last10=Romitti |first10=Paul A. |date=2016-03-01 |title=Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis |journal=Plastic and Reconstructive Surgery |volume=137 |issue=3 |pages=952–961 |doi=10.1097/01.prs.0000479978.75545.ee |issn=1529-4242 |pmc=4770826 |pmid=26910679}}</ref> Several potential risk factors have been identified for craniosynostosis include:<ref>{{Cite journal |last1=Kabbani |first1=Haidar |last2=Raghuveer |first2=Talkad S. |date=2004-06-15 |title=Craniosynostosis |url=https://www.aafp.org/pubs/afp/issues/2004/0615/p2863.html |journal=American Family Physician |language=en-US |volume=69 |issue=12 |pages=2863–2870|pmid=15222651 }}</ref>

* Advanced maternal age
* White maternal race
* Maternal smoking
* Male infant
* Certain paternal occupations (e.g. agriculture, forestry, repairmen) <ref>{{Cite journal |last1=Bradley |first1=C. M. |last2=Alderman |first2=B. W. |last3=Williams |first3=M. A. |last4=Checkoway |first4=H. |last5=Fernbach |first5=S. K. |last6=Greene |first6=C. |last7=Bigelow |first7=P. L. |last8=Reif |first8=J. S. |date=1995-05-01 |title=Parental occupations as risk factors for craniosynostosis in offspring |url=https://pubmed.ncbi.nlm.nih.gov/7619941/ |journal=Epidemiology |volume=6 |issue=3 |pages=306–310 |doi=10.1097/00001648-199505000-00020 |issn=1044-3983 |pmid=7619941|s2cid=24625014 |doi-access=free }}</ref>

'''Syndromic'''

Sagittal craniosynostosis is seen in many conditions and syndromes:<ref name="NCBI">{{cite web |title=Sagittal craniosynostosis (Concept ID: C0432123) |url=https://www.ncbi.nlm.nih.gov/medgen/140921 |website=MedGen |publisher=NCBI |access-date=March 17, 2023}}</ref>
* [[Apert syndrome|Acrocephalosyndactyly type I]]
* [[Baller–Gerold syndrome]]
* [[Cardiocranial syndrome, Pfeiffer type]]
* [[Coffin-Siris syndrome]] 7
* [[Cranioectodermal dysplasia]] 1, 3, and 4
* Craniosynostosis (nonsyndromic) 4
* Craniosynostosis and dental anomalies
* [[Craniosynostosis-anal anomalies-porokeratosis syndrome]]
* Craniosynostosis-[[Dandy–Walker malformation|Dandy-Walker malformation]]-[[hydrocephalus]] syndrome
* [[Crouzon syndrome]]
* Meier-Gorlin syndrome 7
* [[Neonatal diabetes|Neonatal diabetes mellitus]] with [[congenital hypothyroidism]]
* [[Noonan syndrome]] 3
* [[RAB23]]-related [[Carpenter syndrome]]
* [[Syndactyly]] type 1 (Chromosome 2q35 Duplication Syndrome)
* [[Tatton-Brown–Rahman syndrome]]
* [[TCF12]]-related craniosynostosis
* Teebi [[hypertelorism]] syndrome 1
* [[Trigonocephaly]]-[[short stature]]-[[Developmental disability|developmental delay]] syndrome
* [[TWIST1]]-related craniosynostosis

== Diagnosis and evaluation ==
Diagnosis of scaphocephaly is with physical exam, which may show characteristic features such as an elongated head in the anterior-posterior dimension, narrow head in the lateral dimension, and bony ridge at the vertex.<ref name="Sandoval-2022">{{Citation |last1=Sandoval |first1=Jose I. |title=Scaphocephaly |date=2022 |url=http://www.ncbi.nlm.nih.gov/books/NBK567753/ |work=StatPearls |place=Treasure Island (FL) |publisher=StatPearls Publishing |pmid=33620830 |access-date=2023-01-03 |last2=De Jesus |first2=Orlando}}</ref>

Further evaluation with imaging may also be performed. [[Ultrasound]] may be used to detect fusion of the suture. [[CT scan]]s may also be used to help with surgical planning and to diagnose associated [[hydrocephalus]], which has been found to be present in 44% of cases in one study.<ref>{{Cite journal |last1=Wall |first1=Steven A. |last2=Thomas |first2=Gregory P. L. |last3=Johnson |first3=David |last4=Byren |first4=Jo C. |last5=Jayamohan |first5=Jayaratnam |last6=Magdum |first6=Shailendra A. |last7=McAuley |first7=David J. |last8=Richards |first8=Peter G. |date=2014-12-01 |title=The preoperative incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis is underestimated in the literature |journal=Journal of Neurosurgery. Pediatrics |volume=14 |issue=6 |pages=674–681 |doi=10.3171/2014.8.PEDS1425 |issn=1933-0715 |pmid=25259602|doi-access=free }}</ref> A measure of [[cephalic index]] may also be reduced, however the reliability of measurements may not be a reliable measure.<ref>{{Cite journal |last1=Fearon |first1=Jeffrey A. |last2=Ditthakasem |first2=Kanlaya |last3=Herbert |first3=Morley |last4=Kolar |first4=John |date=2017-07-01 |title=An Appraisal of the Cephalic Index in Sagittal Craniosynostosis, and the Unseen Third Dimension |url=https://pubmed.ncbi.nlm.nih.gov/28654600/ |journal=Plastic and Reconstructive Surgery |volume=140 |issue=1 |pages=138–145 |doi=10.1097/PRS.0000000000003422 |issn=1529-4242 |pmid=28654600|s2cid=31253312 }}</ref>

==Classification==
Scaphocephaly can be classified into specific types, depending on morphology, position, and suture closure:<ref>{{Cite journal |last1=Skadorwa |first1=Tymon |last2=Wierzbieniec |first2=Olga |date=August 5, 2022 |title=The foramen magnum in scaphocephaly |journal=Child's Nervous System |volume=38 |issue=11 |pages=2163–2170 |doi=10.1007/s00381-022-05624-2 |pmid=35931858 |pmc=9617951 }}</ref>
* Bathrocephaly– bulging of the mid-section of the [[occipital bone]]; also associated with isolated mendosal suture synostosis.<ref>{{Cite web |last=Neto |first=Antonio Rodrigues de Aguiar |title=Bathrocephaly {{!}} Radiology Reference Article {{!}} Radiopaedia.org |url=https://radiopaedia.org/articles/bathrocephaly?lang=us |access-date=2023-04-06 |website=Radiopaedia |language=en-US}}</ref>
* Clinocephaly– flat cranium due to loss of cranial convexity;<ref name=":0">{{Cite journal |last1=Kim |first1=Hyun |last2=Roh |first2=Hong |last3=Lee |first3=Il |date=May 2016 |title=Craniosynostosis : Updates in Radiologic Diagnois - PMC |journal=Journal of Korean Neurosurgical Society |volume=59 |issue=3 |pages=219–226 |doi=10.3340/jkns.2016.59.3.219 |pmid=27226852 |pmc=4877543 }}</ref> top of head is depressed inwards.<ref>{{Cite journal |last1=Pfaff |first1=Miles |last2=Fenton |first2=Regina |last3=Goldstein |first3=Jesse |title=The Clinical Significance of Clinocephaly in Late-Presentation Sagittal Craniosynostosis |url=https://journals.sagepub.com/doi/abs/10.1177/10556656211064484?journalCode=cpca |access-date=April 5, 2023 |journal=The Cleft Palate Craniofacial Journal|year=2023 |volume=60 |issue=5 |pages=521–525 |doi=10.1177/10556656211064484 |pmid=35538850 |s2cid=248695057 }}</ref>
* [[Dolichocephaly]]– long and narrow head.<ref>{{Cite web |last=midwifeshawn |date=2014-04-01 |title=Dolichocephaly - understanding 'breech head' molding |url=https://breechbirth.org.uk/2014/04/01/dolichocephaly-understanding-breech-head-molding/ |access-date=2023-04-06 |website=Breech Birth Network |language=en-US}}</ref>
* [[Leptocephaly]]– synostosis extends down to the [[Frontal suture|metopic suture]];<ref>{{Cite journal |last1=Vinchon |first1=Matthieu |last2=Pellerin |first2=Philippe |last3=Guerreschi |first3=Pierre |last4=Baroncini |first4=Marc |last5=Dhellemmes |first5=Patrick |date=2012-09-01 |title=Atypical scaphocephaly: a review |url=https://doi.org/10.1007/s00381-012-1807-8 |journal=Child's Nervous System |language=en |volume=28 |issue=9 |pages=1319–1325 |doi=10.1007/s00381-012-1807-8 |pmid=22872243 |s2cid=24212027 |issn=1433-0350}}</ref> the head becomes narrow, but tall rather than long.<ref name=":0" />
* Sphenocephaly– wedge-shaped head.<ref>{{Citation |title=sphenocephaly |url=https://medical-dictionary.thefreedictionary.com/sphenocephaly |work=The Free Dictionary |access-date=2023-04-06}}</ref>
<gallery>
File:Dolichocéphalie a 10 ans.jpg|Dolichocephaly
File:Shuttleworth Potts Plate VII (1).jpg|Leptocephaly
File:Various types 2 (detail E, sphenocephalus).jpg|Sphenocephaly
</gallery>

==Treatment==
This condition can be corrected by surgery if the child is young enough, typically within the first 3–6 months.<ref name="Sandoval-2022" /> The goal of treatment is to correct [[intracranial pressure]] and repair bony deformities.<ref>{{Cite journal |last1=Ciurea |first1=AV |last2=Toader |first2=C |last3=Mihalache |first3=C |date=2011-11-14 |title=Actual concepts in scaphocephaly |journal=Journal of Medicine and Life |volume=4 |issue=4 |pages=424–431 |issn=1844-122X |pmc=3227159 |pmid=22514579}}</ref> The decision to treat is multifactorial and should be performed at a center with an experienced craniofacial team.<ref name="Buchanan-2017">{{Cite journal |last1=Buchanan |first1=Edward P |last2=Xue |first2=Yunfeng |last3=Xue |first3=Amy S |last4=Olshinka |first4=Asaf |last5=Lam |first5=Sandi |date=2017-07-06 |title=Multidisciplinary care of craniosynostosis |journal=Journal of Multidisciplinary Healthcare |volume=10 |pages=263–270 |doi=10.2147/JMDH.S100248 |issn=1178-2390 |pmc=5505551 |pmid=28740400 |doi-access=free }}</ref> In addition to the primary [[Craniofacial surgery|craniofacial surgeon]], team members may include [[Audiology|audiologists]], [[dentist]]s, [[Otorhinolaryngology|otolaryngologists]], [[Neurosurgery|neurosurgeons]], [[Plastic surgery|plastic surgeons]], and other supporting members.<ref name="Buchanan-2017" />

Surgery is generally aimed at removal of the fused sagittal suture to allow for lateral expansion of the skull. Surgical options include:<ref name="Sandoval-2022" />

* Endoscopic strip craniectomy: Minimally invasive removal of the fused suture. Following surgery, patients typically wear a helmet to help shape the head. Helmets are usually worn for 3–12 months.<ref>{{Cite web |title=Endoscopic Strip Craniectomy - Seattle Children's |url=https://www.seattlechildrens.org/clinics/craniofacial/services/endoscopic-strip-craniectomy/ |access-date=2023-01-04 |website=Seattle Children’s Hospital |language=en}}</ref>
* Open cranial vault remodeling: Open surgical removal of the fused sagittal suture and re-shaping of the skull, generally with resorbable plates.<ref>{{Cite journal |last1=Panchal |first1=Jayesh |last2=Uttchin |first2=Venus |date=2003-05-01 |title=Management of craniosynostosis |url=https://pubmed.ncbi.nlm.nih.gov/12711969/ |journal=Plastic and Reconstructive Surgery |volume=111 |issue=6 |pages=2032–2048; quiz 2049 |doi=10.1097/01.PRS.0000056839.94034.47 |issn=0032-1052 |pmid=12711969}}</ref>
* Spring cranioplasty: Combination of an endoscopic strip craniectomy with placement of springs which provide continuous force for re-shaping the skull.<ref>{{Cite web |title=Spring Assisted Cranioplasty {{!}} UPMC Children's Hospital |url=https://www.chp.edu/our-services/plastic-surgery/patient-procedures/spring-assisted-cranioplasty |access-date=2023-01-04 |website=Children's Hospital of Pittsburgh}}</ref>

==Terminology==
The term, from Greek ''skaphe'' meaning 'light boat or skiff' and ''kephale'' meaning 'head', describes a specific shape of a long narrow head<ref>{{DorlandsDict|seven/000094763|scaphocephaly}}</ref> that resembles a boat.

==See also==
* [[Dolichocephaly]]

==References==
{{Reflist|group=lower-alpha}}
{{Reflist}}

== External links ==
* [https://web.archive.org/web/20080920160408/http://www.ninds.nih.gov/disorders/cephalic_disorders/detail_cephalic_disorders.htm NINDS Overview]
{{Medical resources
|   DiseasesDB     =
|  ICD11          = {{ICD11|LB70.0Y}}
|   ICD10          = {{ICD10|Q|75|0|q|65}} ([[EUROCAT (medicine)|EUROCAT]] Q75.01)
|   ICD9           = {{ICD9|756.0}}
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|   eMedicineSubj  =
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|   MeshID         =
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{{Congenital malformations and deformations of musculoskeletal system}}

== References ==

{{Authority control}}

[[Category:Congenital disorders of musculoskeletal system]]